Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2827882089

Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 29792

ClinVar RCV Id: RCV000022661 RCV000129682 RCV000222278 RCV000627790 RCV000484916 RCV001195106 RCV002247378 RCV001535706 RCV002490402

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341535.1:p.Glu418Lys	CA128649 NM_001354606.2:c.1252G>A